Results 151 to 160 of about 84,457 (246)

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

, 1996
Francesca Capon, Chiarina Levato, Elena Bussaglia, Stefania Lo Cicero, Eduardo F. Tizzano, M. Baiget, Vincenzo Silani, Antonio Pizzuti, Giuseppe Novelli, Bruno Dallapiccola   +9 more
openalex   +1 more source

Residual Cajal bodies in coilin knockout mice fail to recruit Sm snRNPs and SMN, the spinal muscular atrophy gene product [PDF]

, 2001
Karen E. Tucker, Marı́a T. Berciano, Erica Y. Jacobs, David F. LePage, Karl B. Shpargel, Jennifer J. Rossire, Edward K. L. Chan, Miguel Lafarga, Ronald A. Conlon, A. Gregory Matera   +9 more
openalex   +1 more source

Respiratory effects of nusinersen treatment in pediatric patients with spinal muscular atrophy types 2 and 3. [PDF]

Eur J Pediatr
Rochman M, Shay Levanon D, Amirav I, Be'er M, Cahal M, Besor O, Fattal-Valevski A, Lavie M.   +7 more
europepmc   +1 more source

Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21

, 1999
Katja Grohmann, Thomas F. Wienker, Kathrin Saar, Sabine Rudnik‐Schöneborn, Gisela Stoltenburg‐Didinger, Rainer Rossi, Giuseppe Novelli, Gudrun Nürnberg, Arne Pfeufer, Brunhilde Wirth, André Reis, Klaus Zerres, Christoph Hübner   +12 more
openalex   +1 more source

Direct Interaction of the Spinal Muscular Atrophy Disease Protein SMN with the Small Nucleolar RNA-associated Protein Fibrillarin [PDF]

, 2001
Kevin W. Jones, Karen Gorzynski, Chadwick M. Hales, Utz Fischer, Farah Badbanchi, Rebecca M. Terns, Michael P. Terns   +6 more
openalex   +1 more source

Beyond motor neurons: autonomic dysfunction and ECG findings in adults with 5q-spinal muscular atrophy. [PDF]

J Neurol
Bacara K, Stojanovic SD, Wohnrade C, Osmanovic A, Schreiber-Katz O, Haghikia A, Petri S, Bjelica B.   +7 more
europepmc   +1 more source

Recent progress in identification of the X-linked Spinal Muscular Atrophy (XLSMA) gene confirms a major disease locus between Xpl 1.3-Xpl 1.2

, 1999
L. Baumbach, Devin Dressman, A Meindl, Eric P. Hoffman   +3 more
openalex   +1 more source

Six unaffected livebirths following preimplantation diagnosis for spinal muscular atrophy [PDF]

, 2001
Graeme P. Daniels, Rachel A. Pettigrew, Alan R. Thornhill, Stephen Abbs, Alison Lashwood, Fiona O’Mahony, Christopher G. Mathew, Alan H. Handyside, Peter Braude   +8 more
openalex   +1 more source

Managing Spinal Muscular Atrophy: A Look at the Biology and Treatment Strategies. [PDF]

Biology (Basel)
Vezzoli A, Bottai D, Adami R.
europepmc   +1 more source

Feline Spinal Muscular Atrophy [PDF]

Pediatric Research, 2005
openaire   +3 more sources